SP-CERN: Evaluating Plasma Neurofilament Light Chain as a Biomarker for Hereditary Spastic Paraplegia-SPG11 and -ZFYVE26
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SP-CERN: Evaluating Plasma Neurofilament Light Chain as a Biomarker for Hereditary Spastic Paraplegia-SPG11 and -ZFYVE26
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New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.
Evaluating Plasma Neurofilament Light Chain as a Biomarker for Hereditary Spastic Paraplegia-SPG11 and -ZFYVE26.
This summary is based on a paper published in the journal Movement Disorders on December 9, 2025.
Hereditary spastic paraplegia (HSP) is a large group of inherited disorders that affect nerves that send messages to the muscles. HSP-SPG11 and HSP-ZFYVE26 are autosomal-recessive forms of HSP, meaning that they are caused by two mutated copies of a gene. More information is needed about measurable signs of these disorders for new therapeutic trials.
In this study, researchers evaluated plasma neurofilament light chain (pNfL) as a biomarker for HSP-SPG11 and HSP-ZFYVE26. The team analyzed pNfL levels in 57 patients with HSP, collecting clinical and biomarker data over five years.
Results showed significantly elevated baseline pNfL levels in patients with HSP, reflecting early neuroaxonal injury. However, authors note that baseline pNfL did not help predict future disease progression.
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